发育性髋关节发育不良的遗传学研究

发育性髋关节发育不良(developmental dysplasia of the hip,DDH)是小儿骨科常见的、严重危害儿童健康的先天畸形之一,它是一类髋关节异常情况的总称,包括髋臼发育不良、髋关节半脱位及全脱位等病理类型.早期诊断、早期治疗对DDH的预后至关重要.近40年来,尽管在一些国家已经开展了新生儿筛查,仍有许多患儿不能被早期诊断[1].因此,克隆DDH的易感基因,对该病的早期发现,甚至开展有效的产前诊断具有积极的意义.DDH作为一种常见的危害出生人口健康的疾病,其病因不清.     

新生儿发育性髋关节异常筛查结果分析

目的 探讨新生儿发育性髋关节异常(DDH)的发病情况.方法 选取2008年6月-2009年7月在本院住院和门诊就诊的762例足月新生儿(男382例,女380例).患儿均采用Graf法和Morin法相结合的超声检查手段进行髋关节测量.参照Graf分类方法将髋关节发育不良、髋关节半脱位和髋关节全脱位者定为DDH.对髋关节发育不良患儿采取随访观察,而对髋关节半脱位和髋关节全脱位的DDH患儿行早期Pavlik吊带治疗,同时采用超声跟踪随访6个月,以进一步决定治疗方案.结果 1.143例DDH新生儿中髋关节脱位的发病率为0.52%,髋关节发育不良的发病率为18.25%;2.健康新生儿619例髋关节超声测量指标α角、β角、股骨头覆盖率的正常值分别为(60.19±6.92)度、(45.25±7.29)度、(62.85±6.38)%,DDH患儿分别为(44.52±7.53)度、(58.45±10.36)度、(37.65±7.74)%,二组超声测量指标比较差异均有统计学意义(Pa<0.05);3.性别、胎位、分娩产式、左侧等均为髋关节脱位的高危因素.结论 1.超声检查是新生儿DDH筛查的首选方法.2.明确新生儿髋关节发育的指标、DDH的发病率及相关高危因素,有利于减少DDH发生,同时早期发现DDH、尽早治疗,可改善患儿预后.     

发育性髋关节脱位闭合复位后髋臼发育影响因素研究现状与展望

发育性髋关节脱位(Developmental Dysplasia ofthe Hip,以下简称DDH)是矫形外科中最常见的复杂疾病之一[1],原称先天性髋关节脱位(Congnital Dislo-cation of the Hip CDH)。1992年北美小儿矫形外科协会将先天性髋关节脱位(CDH)改名为发育性髋关节发育不良(DDH),即发育性髋关节     

发育性髋关节发育不良的诊治策略

发育性髋关节发育不良（ developmental dysplasia of the hip, DDH）旧称先天性髋关节脱位（congenital dis-location of the hip,CDH）,1992年北美小儿矫形外科学会将其改名为发育性髋关节脱位或发育性髋关节发育不良,是一种常见的先天性畸形,分为髋关节发育不良、髋关节半脱位、髋关节脱位三种类型。我国发病率报告为0．9‰-39‰,男女发病比例为1：5-7,甚至更高。早期诊断并未普及,儿童骨科医师甚至成人骨科医师都在治疗,但治疗方法各异,并发症较多,一直是儿童骨科医生研究的热点。一、早期诊断     

髋臼发育不良的手术适应证与手术时机

残余髋臼发育不良（Residual Acetabular Dysplasia,RAD）是发育性髋关节发育不良（Developmental Dysplasia of the Hip,DDH）保守或切开复位后最常见的并发症。但RAD不等于半脱位,半脱位可同时伴有RAD。本文所讨论的RAD是指达到同心圆复位后的残余髋臼发育不良,而不包括半脱位伴随的RAD。     

婴儿早期髋关节发育异常的X线片特征

发育性髋关节异常(developmental dysplasia ofthe hip,DDH)包含髋臼发育不良、髋关节半脱位及全脱位,是小儿最常见的髋关节疾患,致残率高.DDH的早期诊断和及时治疗已成为共识.国外从1980年代开始应用临床检查和B超的方法在新生儿期实施DDH的筛查.受患儿的年龄和检查者的经验影响并非所有的DDH经临床检查常用的Ortolani 和Barlow试验得到确诊[1].B超筛查明显降低了延迟就诊率,但也存在争议.     

髋臼的正常发育及发育性髋关节脱位的病理形态学变化

发育性髋关节脱位(Developmental Dysplasia of the Hip，DDH)是常见的先天性畸形，是包括儿童全部髋关节发育不良的统称。由于头臼不同心，导致髋关节一系列病理形态学变化，其中髋臼的变化尤为重要。对DDH患儿髋臼病理形态学的详尽了解是其成功治疗的关键。现就有关问题作一综述。     

儿童发育性髋关节发育不良的外科治疗原则

发育性髋关节发育不良(development dysplasia of the hip,简称DDH)是儿童骨科临床中的一种常见疾病.DDH的非手术治疗是通过Pavlik挽具或髋关节外展支具来获得髋关节复位[1].DDH的外科治疗是指对非手术治疗失败的DDH所采取的治疗方法,包括麻醉下的闭合复位、石膏固定,切开复位、股骨截骨或骨盆截骨等.外科手术治疗的目的包括:脱位的髋关节获得稳定的中心性复位;最大限度的减小并发症的发生,如股骨头缺血性坏死和髋关节僵硬等,以及减少远期随访时的再次手术率[2].     

发育性髋关节发育不良发病危险因素的研究进展

发育性髋关节发育不良(developmental dysplasia of the hip,DDH)是小儿骨科常见的下肢发育畸形,严重危害患者及其家长身心健康。影响DDH发病的因素可大致分为两部分,即遗传因素和环境因素。随着20世纪80年代高检出率髋关节超声的应用及国家二胎政策的开放,可预见未来一段时期内DDH患者数量将会增加。早诊断、早治疗是该病国内外公认的诊治原则,0~6月龄更是其治疗的黄金时期。但目前其发病的确切病因、发病机制尚不完全清楚,因此对婴儿进行早期筛查和及时干预,对早期诊治意义重大。笔者通过简要综述发育性髋关节发育不良发病危险因素的研究进展,以期为DDH早期筛查和诊断提供参考。     

发育性髋关节发育不良的早期筛查及保守治疗现状

发育性髋关节发育不良(developmental dysplasia of the hip,DDH)是小儿最常见的髋关节疾病。早期筛查是发育性髋关节发育不良诊治的重要环节,在日益成熟的筛查体系下,通过体格检查、超声检查及X线检查等方法可尽早明确诊断,为早期治疗提供条件。保守治疗适用于1.5岁以内的DDH患儿,包括佩戴髋关节外展支具和闭合复位。本文将围绕发育性髋关节发育不良的早期筛查和保守治疗的近期研究成果进行综述。     

Screening for developmental dysplasia of the hip: Results of a 7-year follow-up study

BACKGROUND: Screening for developmental dysplasia of the hip (DDH) is widely recommended for all infants to prevent disability from late diagnosis of dislocation of the hip. The present study evaluates the results of screening for developmental dislocation of hip in a clinic in Turkey over the course of 7 years. METHODS: Hospital records of 5798 infants who were examined regularly until walking age at Gazi University well child clinics between January 1995 and December 2001 were reviewed. Infants with known risk factors for DDH such as breech presentation, family history of DDH or swaddling, and of infants with physical examination findings suggestive of DDH, were referred to orthopedic surgeons for diagnosis. Based on this final diagnosis, sensitivity, specificity, positive and negative predictive values of risk factors and physical examination findings were calculated. RESULTS: Of the 5798 infants, risk factors were detected in the medical history of 111 infants, and in 14 infants a musculoskeletal deformity was detected. In 606 infants the physical examination findings were suggestive of DDH. Ten patients were subsequently diagnosed with DDH. The sensitivity, specificity, positive predictive value and negative predictive values of having a risk factor for DDH in history were 10.0%, 98.1%, 0.9%, 99.8%, and having abnormal hip examination findings were 100.0%, 88.9%, 1.6% and 100.0%, respectively. CONCLUSIONS: A careful history and physical examination is the cornerstone of DDH screening. Serial hip examinations performed during health examination visits provide an opportunity to identify DDH cases. The sensitivity of risk factors in history and physical examination findings together is high enough to be accepted as a screening tool.     

婴幼儿发育性髋关节异常的早期诊断

目的 报道采用超声波髋关节检查技术诊断新生儿和小婴儿发育性髋关节异常(DDH)和早期处理的初步经验。方法 2002年4月～2002年9月，391例临床怀疑DDH，年龄小于l岁的婴幼儿在上海儿童医学中心接受了超声波髋关节检查，其中男193例(49．4％)，女198例(50．6％)。最小年龄5d，最大年龄354d。其中新生儿24例(6．14％)，2个月婴儿52例(13．30％)，3个月婴儿54例(13．81％)，4～6个月婴儿164例(41．94％)，6～12个月婴儿97例(24．81％)。参照Graf等分类方法，检查者被分为五类，其中髋关节发育不良、髋关节半脱位和髋关节全脱位者定为DDH。髋关节发育不成熟者采取随访观察。年龄小于6个月的DDH接受了早期Pavlik吊带治疗，并采用超声波跟踪，决定治疗的终止或改动。结果 300例超声波检查正常，91例超声波检查阳性，其中42例诊断为DDH。接受随访的35例髋关节发育不成熟病例中，29例自行恢复。Pavlik吊带治疗在小于6个月DDH婴幼儿中成功率为91．67％。结论 采用超声波髋关节诊断技术可以早期发现新生儿和小婴儿DDH，并施行早期治疗，可以提高DDH在儿童期的治愈率，减少漏诊病例，简化治疗，提高疗效。     

三维超声在筛查新生儿发育性髋关节异常中的探索性应用

目的 探索三维高频超声髋关节检查技术在诊断新生儿发育性髋关节异常(DDH)中的应用价值.方法 2010年6月至2010年12月,采用PHILIPS IU22超声诊断仪,二维加三维高频线阵探头,对768例新生儿行髋关节超声筛查.新生儿7d内行超声波髋关节筛查,采用Graf法及股骨头覆盖率比值测量髋关节,并结合三维成像图评判髋关节发育情况.结果 本组受检新生儿768例(1 536髋),其中女婴398例,男婴370例,新生儿平均受检时间为出生后5.8d.正常的髋关节共1 412髋,占91.92％;髋关节不稳定共99髋,占6.45％;髋关节发育不良19髋、半脱位4髋、脱位2髋,共占1.63％.结论 Graf的髋关节额状面成像技术,可以对新生儿髋关节进行清晰的超声成像,并进行了定性、定量分析,诊断DDH,但标准图像的获得是测量和诊断的关键,它会受操作者的技术影响.三维超声成像技术,可观察髋关节空间结构,旋转X、Y、Z轴,更可从不同角度观察髋关节的发育情况,提供髋关节解剖形态和关节功能的信息,并能早期显示髋关节解剖结构,这点是传统X线片不能比拟的优势,图像更加直观,加上高频超声波检查的无放射性损害,重复性强,因此二维和三维超声二者相结合诊断发育性髋关节异常,更符合临床上治疗髋臼发育不良的时间越早越好的需求.     

Developmental dysplasia of the hip: a new approach to incidence

OBJECTIVE: The controversy over the incidence of developmental dysplasia of the hip (DDH) stems mainly from an ambiguity of criteria for defining a genuinely pathologic neonatal hip. In this study, we evaluate an algorithm we devised for the treatment of DDH, for its ability to identify those neonatal hips which, if left untreated, would develop any kind of dysplasia and, therefore, are to be included in the determination of DDH incidence. METHODS: Clinical and ultrasonographic examinations for DDH were performed on 18 060 consecutive neonatal hips at 1 to 3 days of life. Newborns with skeletal deformities, neurologic/muscular disorders, and neural tube defects were excluded. Hips that featured any type of sonographic pathology were reexamined at 2 or 6 weeks, depending on the severity of the findings. Only hips in which the initial pathology was not improved or had deteriorated were treated; all others were examined periodically until the age of 12 months. RESULTS: Sonographic screening of 18 060 hips detected 1001 instances of deviation from normal, indicating a sonographic DDH incidence of 55.1 per 1000. However, only 90 hips remained abnormal and required treatment, indicating a true DDH incidence of 5 per 1000 hips. All the others evolved into normal hips, and no additional instances of DDH were found on follow-up throughout the 12 months. CONCLUSIONS: The implementation of our protocol enables us to distinguish two categories of neonatal hip pathology: one that eventually develops into a normal hip (essentially sonographic DDH); and another that will deteriorate into a hip with some kind of dysplasia, including full dislocation (true DDH). This approach seems to allow for a better-founded definition of DDH, for an appropriate determination of its incidence, for decision-making regarding treatment, and for assessment of the cost-effectiveness of screening programs for the early detection of DDH.     

The diagnosis and management of congenital dislocation of the hip

Congenital dislocation of the hip (CDH) or developmental dysplasia of the hip (DDH) is a common condition that encompasses a spectrum of pathology affecting the neonatal hip. Clinical signs of instability may be difficult to detect at birth using the Barlow Ortolani test. A clear imperative is to make an early diagnosis since delay after 3 months is synonymous with the necessity for surgery and also leads to a compromised prognosis. There is considerable controversy about clinical screening for DDH or ultrasound screening, either comprehensive or selective. Risk factors – such as breech presentation, oligohydramnios and talipes – are well known and there is some evidence that selective screening for these babies with ultrasound may assist diagnosis. The incidence of neonatal hip instability is around 15–20 per 1000 live births but that of established dislocation 1–2 per 1000 live births in unscreened cohorts. The usual early treatment is with the Pavlik harness but after 3 months, surgery – either an open or closed reduction – is necessary and in some surgically untreated children, secondary procedures such as pelvic osteotomy are necessary.     

Ultrasonography in developmental dysplasia of the hip: what have we learned?

Developmental dysplasia of the hip (DDH) is an important but poorly defined entity, the natural history of which is incompletely understood. The term encompasses a disease spectrum ranging from a stable hip with a mildly dysplastic acetabulum to complete hip dislocation. Much controversy surrounds the diagnosis, imaging and management of this condition. We present a review of the history of US imaging of DDH from the radiologist’s perspective, summarising the most widely recognised US methods described to date. We discuss controversies in the approach to US examination, with particular emphasis on current opinions. The existing scientific evidence for and variations in the practice of US screening for DDH, including recommendations from the United States Preventive Services Task Force and the ESPR DDH Taskforce Group respectively, are discussed.     

高频超声对疑似发育性髋关节异常患儿髋关节发育的评估价值

目的 探讨常规静态超声在诊断临床疑似发育性髋关节异常患儿中的应用价值.方法对612名疑似发育性髋关节异常患儿的1 224个关节进行超声检查,依据 Graf法分型、Morin法评价关节的稳定性并动态追踪最终的发育结果.结果 临床疑似病例中,87.4%分类为I型形态学正常的髋关节,9.8%分类为Iia型生理不成熟型关节,8...     

Developmental dysplasia of the hip. A population-based comparison of ultrasound and clinical findings

Clinical and ultrasound findings were compared in 3613 newborns examined for developmental dysplasia of the hip (DDH) within 48 hours of delivery. Clinical and sonographic hip stability was described as stable, borderline unstable, dislocatable or dislocated, and the morphology on ultrasound as normal, immature or dysplastic. Persistent clinical or sonographic dislocatability or dislocation. major dysplasia or minor dysplasia combined with an unstable femoral head were indications for early treatment. A total of 123 (3.4%) infants were subjected to early treatment. of which 55 (45%) fulfilled the criteria for treatment on both clinical and ultrasound examinations, 52 (42%) were treated on the basis of ultrasound findings alone, and 16 (13%) on the basis of clinical findings alone. Thirty percent of the infants with clinically dislocated or dislocatable hips were judged to have stable or just borderline unstable hips on the first clinical examination. Of 486 (13.5%) infants with sonographically immature or minor dysplastic but stable hips, 472 (97%) normalized spontaneously, while treatment was initiated in 14 (3%) of them at 1-3 months of age because of lack of sonographic improvement. Only one infant presented with late DDH during an observation period of 3 years. Accepting sonographic dysplasia as a criterion for early splinting may result in a treatment rate which is almost twice the rate based on clinical criteria, but late dislocation may be virtually eliminated.